Publications by authors named "Sawa Yasumoto"
Article Synopsis
- The study investigates the link between high-frequency oscillations (HFOs) captured in EEG and the clinical progression of Panayiotopoulos syndrome (PS) in children to see if HFOs can indicate seizure activity.
- Out of 18 analyzed children, 72.2% showed HFOs, and those with HFOs experienced longer seizure activity and were often resistant to treatment.
- The findings suggest that HFOs could serve as a biomarker for epilepsy and indicate when to reduce medication, as seizures were absent when HFOs were not present despite other EEG spikes.
Article Synopsis
- - The study aimed to analyze the neurophysiological aspects of acute flaccid myelitis (AFM) and its effects on motor skills in patients, focusing on limb strength outcomes.
- - Out of 49 AFM patients, nerve conduction studies revealed that many showed serious muscle action potential reductions early on, with abnormalities increasing over the first two weeks; weaker muscle strength was linked to lower action potential levels.
- - The findings suggest that AFM displays distinct neuronopathy characteristics and highlight the potential of nerve conduction studies in diagnosing and assessing AFM.
Article Synopsis
- The study examines the long-term motor outcomes and disability levels in children affected by acute flaccid myelitis (AFM) linked to the 2015 enterovirus D68 outbreak.
- A nationwide follow-up assessed motor function and daily living activities at various stages (acute, recovery, chronic) in 33 pediatric patients.
- Despite many showing persistent motor deficits, overall disability levels improved significantly over three years, with better outcomes for non-motor neurological symptoms.
Objecive: To clarify the neuroimaging findings of children with acute flaccid myelitis during an outbreak of EV-D68 infection.
Methods: We performed a detailed review of the spinal and cranial MRI results of 54 children with acute flaccid myelitis. We focused on the range of longitudinal lesions, the localization and appearance of lesions within a horizontal section, Gadolinium-enhancement, and changes over time.
Article Synopsis
- A case study of an 11-year-old girl with recurrent neuropathy showed that she had anti-ganglionic acetylcholine receptor antibodies, indicating autoimmune autonomic ganglionopathy.
- Her symptoms included numbness, limb pain, and autonomic dysfunctions following gastroenteritis, with episodes recurring three times in a year.
- Treatments like intravenous immunoglobulin improved her symptoms in two relapses, but the fourth relapse required methylprednisolone pulse therapy to fully resolve the residual issues, highlighting the need for further research on effective treatments for such conditions.
Article Synopsis
- The study aimed to evaluate the effectiveness and safety of long-term lamotrigine (LTG) monotherapy in pediatric patients from Japan and South Korea with newly diagnosed typical absence seizures.
- Seven patients participated in the extension phase after an initial study, with six completing the phase and showing a high seizure-free rate (71.4% to 100%) over 168 weeks.
- Although one patient had to withdraw due to a mild drug-related rash, the results suggested that LTG is effective and well tolerated among the small group of patients studied.
Article Synopsis
- Acute flaccid myelitis (AFM) is a rare paralysis syndrome linked to spinal motor neuron damage, and a study conducted during a 2015 enterovirus D68 (EV-D68) outbreak in Japan identified 59 cases, primarily affecting young children with various paralysis patterns.
- The investigation revealed a strong correlation between AFM cases and EV-D68 detection, with the virus found in several patients through different biological specimens, signaling a potential causal relationship.
- Key prognostic factors for better outcomes included higher manual muscle strength scores before treatment, normal nerve function indicators, and negative EV-D68 status, indicating that immune responses may play a role in AFM susceptibility.
Article Synopsis
- The study aimed to assess how effective and safe lamotrigine (LTG) is for treating pediatric patients (ages 4-12) in Japan and South Korea with newly diagnosed typical absence seizures.
- In the trial, twenty patients were given gradually increasing doses of LTG, and after several phases, 35% of them were confirmed seizure-free at the end of the maintenance phase through hyperventilation-electroencephalography (HV-EEG).
- While most patients tolerated the treatment well, experiencing mild side effects like bronchitis, headache, and rash, no serious adverse events were reported, indicating overall safety.
Article Synopsis
- Myoclonic-astatic epilepsy (MAE) is a childhood epilepsy syndrome with varying outcomes, from remission to severe disabilities.
- Researchers analyzed 9 children's clinical histories and EEG results to identify early risk factors that could influence treatment for MAE.
- The study found that earlier onset of seizures and the presence of focal spike discharges on EEG were linked to poorer prognoses, while favorable outcomes were seen in cases without focal spikes.
Purpose: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE). The aim of this study was to identify PRRT2 mutations in infantile convulsions in Asian families with BFIE and ICCA, CwG and BFNE.
Methods: We recruited 26 unrelated Japanese affected with either BFIE or non-familial benign infantile seizures and their families, including three families with ICCA.
The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.
View Article and Find Full Text PDFPelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS). We identified a rare partial duplication of the proteolipid protein 1 gene (PLP1) in a patient with PMD. To assess the underlying effect of this duplication, we examined PLP1 expression in induced pluripotent stem (iPS) cells generated from the patient's fibroblasts.
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- The study investigates the role of PCDH19 mutations in Japanese females with epilepsy, focusing on phenotypes associated with these mutations.
- Out of 116 patients analyzed, 7 had significant mutations, showing early seizure onset, clusters of seizures, and a tendency for intellectual decline over time.
- The findings indicate that PCDH19 mutations are common among these females, but Dravet syndrome was less prevalent compared to the expected rates.
Article Synopsis
- * Over 10 new missense mutations have been discovered in benign familial neonatal-infantile seizures, while only one nonsense mutation has been noted in a child with severe epilepsy and mental decline.
- * Recent findings also include a microduplication on chromosome 2q24.3 associated with neonatal seizures and intellectual disability, and studies show that SCN2A mutations can lead to various defects in sodium channel function without a clear pattern between genetic changes and clinical symptoms.
Article Synopsis
- The study investigates the relationship between hippocampal abnormalities in childhood-onset epilepsy patients and their clinical features using MRI scans.
- Patients were categorized based on their hippocampal morphology into three groups, revealing varying degrees of volume reduction and signal abnormalities.
- Results indicate that severe hippocampal volume reduction is linked to a history of status epilepticus, while both hippocampal sclerosis and malrotation may influence the development of epilepsy.
Article Synopsis
- Two cases of nocturnal frontal lobe epilepsy (NFLE) in children are detailed, highlighting the importance of nocturnal sleep EEGs and thorough patient histories for diagnosis.
- Case #1 involved a 14-year-old boy with tonic convulsions and eye-opening seizures during sleep; standard EEGs showed no abnormalities, but nocturnal EEGs revealed characteristic sharp wave bursts in the right frontal lobe.
- Case #2 focused on a 12-year-old boy with one daytime convulsion and episodic behaviors mistaken for parasomnia; nocturnal EEG confirmed abnormal discharges in the frontal lobe, leading to the NFLE diagnosis.*
A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 was performed on 140 Japanese patients with various childhood epilepsies largely including Dravet syndrome and genetic epilepsy with febrile seizures plus.
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- A comprehensive study conducted in Fukuoka, Japan, investigated the incidence and features of childhood acute disseminated encephalomyelitis (ADEM), multiple sclerosis, and acute isolated transverse myelitis over 5 years.
- The study identified 26 cases of ADEM, 8 cases of multiple sclerosis, and 4 cases of transverse myelitis, noting ADEM's incidence rate of 0.64 per 100,000 person-years, predominantly affecting males aged around 5.7 years.
- Findings indicated that many ADEM patients had recent infections or vaccinations, and clinical features showed ethnic/geographical variations, suggesting different genetic or environmental risk factors compared to multiple sclerosis.
Article Synopsis
- A case study of a 13-year-old girl reveals that congenital long QT syndrome (LQTS) was misdiagnosed as epilepsy after she experienced seizures, highlighting a critical diagnostic challenge.
- LQTS can lead to life-threatening situations, such as torsade de pointes, making it essential to distinguish it from epilepsy.
- The report outlines five key criteria to help differentiate LQTS from epilepsy: awareness of arrhythmias, checking pulse during seizures, ECG monitoring during EEG, analyzing interictal EEG, and reconsidering cardiac causes for uncontrolled seizures.
Article Synopsis
- Mutations in the SCN2A gene, which encodes a sodium channel subunit, are linked to benign familial neonatal-infantile seizures (BFNIS), and specific mutations were investigated in relation to Dravet syndrome.
- The study involved screening 59 Dravet syndrome patients for mutations in SCN1A, SCN2A, and GABRG2, revealing 29 SCN1A mutations and three SCN2A missense mutations.
- One significant de novo SCN2A mutation (c.3935G>C: R1312T) was identified as potentially pathogenic due to its effect on the channel’s voltage sensor, indicating that both nonsense and missense mutations in SCN2A
Article Synopsis
- - The study examines the survival and development outcomes of 11 infants diagnosed with different types of brain tumors before the age of one, revealing generally poor prognoses with only six surviving patients.
- - Surgical resection was performed on eight patients, with varying treatments including chemotherapy and radiotherapy, but five surviving patients showed signs of mental retardation.
- - The findings highlight that, while some infants survived for extended periods, they require ongoing medical and social support due to potential developmental issues stemming from their conditions.
Article Synopsis
- Researchers identified a novel mutation in the KCNQ2 gene, linked to a girl's non-familial benign neonatal convulsions, which showcases a genetic cause for her seizures.
- The mutation affects the function of KCNQ K(+) channels, confirming its role in epilepsy despite proper localization on the cell membrane.
- This study suggests that genes associated with rare inherited epilepsy might also play a significant role in more common forms of sporadic epilepsy, indicating shared molecular mechanisms.
Article Synopsis
- The study investigates the role of microchromosomal deletions in patients with severe myoclonic epilepsy in infancy (SMEI) and its borderline phenotype (SMEB), particularly since over 60% of SMEI patients have abnormalities in the SCN1A gene.
- Researchers recruited 35 SMEI patients and 34 SMEB patients, all previously found negative for SCN1A mutations, and used advanced genetic techniques to look for microdeletions.
- Results showed that 20% of SMEI patients had heterozygous multiple exonic deletions, which were typically new mutations (de novo), indicating that microdeletions may contribute to SMEI without being predictable based on patient symptoms.